PMID- 10465580
OWN - NLM
STAT- MEDLINE
DCOM- 19991103
LR  - 20191024
IS  - 0960-8931 (Print)
IS  - 0960-8931 (Linking)
VI  - 9
IP  - 3
DP  - 1999 Jun
TI  - Mutation analysis of the MEN1 tumour suppressor gene in malignant melanoma.
PG  - 249-52
AB  - During the initiation and progression of malignant melanoma a series of genetic 
      events accumulate, including alterations of chromosome 11q. Recently, an 
      important tumour suppressor gene, the multiple endocrine neoplasia type 1 (MEN1) 
      gene, has been mapped on 11q13 and has been cloned. To assess whether the MEN1 
      region is involved in tumour initiation and progression, we analysed 23 primary 
      cutaneous melanomas and 17 metastases for loss of heterozygosity (LOH) using two 
      informative polymorphic markers closely linked to the MEN1 gene (PYGM and 
      D11S449). To search for mutations within the gene, single-strand conformation 
      polymorphism (SSCP) analysis was performed using 13 primer sets with designed 
      intronic sequences to amplify the MEN1 coding sequence exons 2 to 10. None of the 
      cases showed LOH at the MEN1 gene locus. By SSCP analysis, no aberrant bands were 
      identified on exons 3 to 10. Analysis of exon 2 revealed the presence of aberrant 
      bands in two of the analysed melanomas. Sequencing analysis revealed a genetic 
      polymorphism at S145S (AGC-->ACT) in both sections. None of the cases analysed 
      showed MEN1 gene mutations. This study represents the first genetic analysis of 
      the MEN1 gene in sporadic melanomas. Our data demonstrate no evidence of deletion 
      or mutation of the MEN1 gene in primary or metastatic melanoma. Therefore, MEN1 
      gene alterations appear not to be associated with tumorigenesis of malignant 
      melanoma. The MEN1 gene appears to be a highly specific tumour suppressor gene 
      only involving tumours within the spectrum of MEN1 disease.
FAU - Boni, R
AU  - Boni R
AD  - Department of Dermatology, University Hospital, Zurich, Switzerland.
FAU - Vortmeyer, A O
AU  - Vortmeyer AO
FAU - Huang, S
AU  - Huang S
FAU - Burg, G
AU  - Burg G
FAU - Hofbauer, G
AU  - Hofbauer G
FAU - Zhuang, Z
AU  - Zhuang Z
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Melanoma Res
JT  - Melanoma research
JID - 9109623
RN  - 0 (Genetic Markers)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Alleles
MH  - Chromosomes, Human, Pair 11
MH  - DNA Mutational Analysis
MH  - Gene Deletion
MH  - Genetic Markers
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Melanoma/*genetics
MH  - *Mutation
MH  - Neoplasm Proteins/*genetics
MH  - Polymorphism, Genetic
MH  - Polymorphism, Single-Stranded Conformational
MH  - *Proto-Oncogene Proteins
MH  - Skin Neoplasms/metabolism
EDAT- 1999/08/28 00:00
MHDA- 1999/08/28 00:01
CRDT- 1999/08/28 00:00
PHST- 1999/08/28 00:00 [pubmed]
PHST- 1999/08/28 00:01 [medline]
PHST- 1999/08/28 00:00 [entrez]
AID - 10.1097/00008390-199906000-00006 [doi]
PST - ppublish
SO  - Melanoma Res. 1999 Jun;9(3):249-52. doi: 10.1097/00008390-199906000-00006.